The search for effective, safe treatments for Down syndrome–associated Alzheimer’s disease (DS-AD) faces many obstacles—policy, process, practicality, and a general lack of formally standardized practices. One of the most pressing barriers is diagnostic: how can clinicians accurately diagnose and identify the stages of Alzheimer’s disease in people with Down syndrome, whose intellectual and developmental abilities present challenges to the measurement tools currently available?

A recent article published in Alzheimer’s & Dementia, the scientific journal of the Alzheimer’s Association, takes an important step toward answering this question

The study, “Specialists’ perceptions of clinical instruments, practices, and staging of DS-AD,” was a collaboration of LuMind IDSC, the National Task Group on Intellectual Disabilities and Dementia, and Stephanie Santoro, MD, who is a Clinical Geneticist at Mass General Hospital, an Assistant Professor at Harvard Medical School, and the Director of Quality Improvement Research, Mass General Hospital Down Syndrome Program.

The collaborators surveyed 42 clinicians and researchers from around the world who are experts in the care of adults with Down syndrome. The goal was to assess whether a consensus could be reached on behavioral assessment tools and staging criteria that would make DS-AD diagnoses more accurate and more consistent across clinical settings.

The results highlight both progress and next steps. Specialists identified the need to:

• Refine assessment tools to account for intellectual and developmental disabilities.
• Combine behavioral measures with biomarkers and imaging for more precise diagnoses.
• Develop flexible approaches—some designed for detailed cognitive profiling, others for a straightforward dementia diagnosis.

The authors concluded that future research should focus on integrating biomarkers with behavioral assessments, particularly for individuals with more severe intellectual disabilities, and on tailoring tools for both clinical and research needs.

This work represents an encouraging advance toward standardizing how DS-AD is diagnosed, and symptoms are measured. For families and individuals with Down syndrome, it is a critical step toward ensuring earlier diagnoses, better access to treatment, and improved quality of life.